Y Chromosome Variation, Mosaic Loss & Disease Risk in East Asian & European Populations

by Dr Natalie Singh - Health Editor
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BioBank Japan: Advancing Genomic Medicine Through Large-Scale Biobanking

BioBank Japan (BBJ) is a pioneering disease biobank established in 2003 at the Institute of Medical Science, The University of Tokyo, as a national project aimed at realizing personalized medicine. It serves as a specialized repository for biological samples – including blood and tissue – and associated data, all generously donated by patients and the public. These resources are crucial for medical research and generating valuable research outcomes.

BBJ’s Core Function

BBJ collects and stores biological samples and information from approximately 270,000 patients diagnosed with 51 target diseases, such as cancer, dyslipidemia, and diabetes. The aim is to contribute to a healthier future by promoting the use of these research resources for the advancement of genome research and genomic medicine.

Phases of Collection

The BBJ has operated through multiple phases. The first phase (2003-2007) involved approximately 200,000 individuals with at least one of 47 target diseases recruited from 12 Japanese medical institutions. A second cohort (2013-2018) included around 80,000 individuals with at least one of 38 target diseases, recruited independently of the first cohort.

Data Security and Access

All samples and data are securely stored, anonymized, and assigned unique IDs for research purposes. BBJ provides access to this resource for researchers in both academia and industry who are working towards genomic medicine, as well as new diagnostic and therapeutic advancements.

Genetic Studies Utilizing BBJ Resources

BBJ resources have been utilized in various genetic studies, including investigations into Y chromosome genotyping and imputation for East Asian populations, and genome-wide association studies (GWAS) related to longevity and telomere length maintenance. These studies often involve comparisons with data from other biobanks, such as the UK Biobank, to broaden the scope of analysis and improve accuracy.

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